Overview
Definition:
Pediatric achalasia is a rare, idiopathic esophageal motility disorder characterized by the absence of peristalsis in the esophageal body and impaired relaxation of the lower esophageal sphincter (LES)
This leads to progressive dysphagia, regurgitation, and malnutrition
Heller myotomy is a surgical procedure involving longitudinal myotomy of the esophageal muscles at the gastroesophageal junction to relieve the obstruction caused by the hypertensive and non-relaxing LES.
Epidemiology:
Achalasia is uncommon in children, accounting for approximately 1-5% of all achalasia cases
Incidence varies, but it is estimated to be around 0.3-0.5 per 100,000 children per year
There is no clear gender predilection, and it can affect infants to adolescents
Primary (idiopathic) achalasia is most common, though secondary achalasia can occur in association with certain rare conditions like Allgrove syndrome (triple A syndrome).
Clinical Significance:
Undiagnosed or inadequately treated pediatric achalasia can lead to significant long-term morbidity including severe malnutrition, failure to thrive, recurrent aspiration pneumonia, esophageal dilation, and an increased risk of esophageal squamous cell carcinoma in adulthood, though this risk is lower in pediatric-onset disease
Early diagnosis and effective management are crucial for improving quality of life and preventing complications.
Clinical Presentation
Symptoms:
Difficulty swallowing (dysphagia) to solids and liquids, often progressive
Regurgitation of undigested food, especially when lying down
Chest pain, described as pressure or burning
Weight loss and poor growth
Recurrent pneumonia or coughing spells due to aspiration
Heartburn, often not relieved by antacids, due to retained food
Vomiting, particularly of retained food
In infants, irritability, poor feeding, and failure to thrive.
Signs:
Poor nutritional status, evidenced by low weight-for-age
Palpable dilated esophagus or undigested food in the pharynx in severe cases
Signs of aspiration pneumonia (fever, tachypnea, crackles on auscultation)
Possible halitosis due to retained food
Abdominal distension in infants due to aerophagia or gastric distension.
Diagnostic Criteria:
Diagnosis is typically based on a combination of symptom history, endoscopic findings, and functional testing
While specific diagnostic criteria are less formalized for pediatric achalasia than for adults, the presence of a non-peristaltic esophagus with a poorly relaxing LES on manometry is definitive
Esophageal manometry is considered the gold standard for diagnosis.
Diagnostic Approach
History Taking:
Detailed history focusing on the nature, duration, and progression of dysphagia
Distinguishing between difficulty with solids vs
liquids
Characterization of regurgitation (timing, content)
Episodes of aspiration, cough, or pneumonia
Weight loss and impact on growth
Previous medical history, including infections or genetic syndromes
Family history of achalasia or other gastrointestinal disorders
Red flags include rapid onset of severe dysphagia, significant weight loss, and signs of aspiration.
Physical Examination:
General assessment of nutritional status and hydration
Thorough cardiopulmonary examination to detect signs of aspiration pneumonia
Abdominal examination for distension or tenderness
Oropharyngeal examination to assess for food residue or gag reflex
Neurological examination to rule out underlying neuromuscular disorders.
Investigations:
Barium swallow: may show dilated esophagus, a dilated stomach with air-fluid level, tapering of the distal esophagus resembling a "bird's beak" or "rat tail" appearance
Esophageal manometry: the gold standard, demonstrating absence of peristalsis in the esophageal body and incomplete relaxation of the LES with swallows, and elevated LES resting pressure
Upper endoscopy (esophagogastroduodenoscopy - EGD): to rule out mechanical obstruction (e.g., stricture, tumor) and to assess for esophagitis or retained food
may show retained food, dilated esophagus, and a tight gastroesophageal junction
Esophageal pH monitoring and impedance: may be used to assess for reflux, though less common as a primary diagnostic tool for achalasia.
Differential Diagnosis:
Eosinophilic esophagitis: dysphagia, chest pain, often responds to steroids
Diffuse esophageal spasm: intermittent dysphagia and chest pain with peristalsis present but abnormal
Achalasia variant
Strictures (benign or malignant): history of reflux, caustic ingestion, radiation therapy
Gastric outlet obstruction: vomiting of undigested food, but LES relaxes
Neuromuscular disorders affecting swallowing: stroke, myasthenia gravis
Allergic reactions leading to esophageal edema.
Management
Initial Management:
Nutritional support is paramount, especially in malnourished children
This may involve high-calorie, low-residue diets, and if necessary, nasogastric or gastrostomy tube feeding
Management aims to reduce LES pressure and improve esophageal emptying.
Medical Management:
Pharmacological treatment is generally less effective and often temporary in pediatric achalasia
Calcium channel blockers (e.g., nifedipine) and nitrates (e.g., isosorbide mononitrate) can be used to relax the LES, but their efficacy is limited and long-term results are often poor in children
Botulinum toxin injection into the LES can provide temporary relief but is less durable than surgical or pneumatic dilation.
Surgical Management:
Heller myotomy is the definitive treatment for pediatric achalasia
It involves surgically dividing the circular muscle fibers of the LES and a portion of the longitudinal muscle fibers of the distal esophagus
Laparoscopic Heller myotomy (LHM) is the preferred approach due to its minimally invasive nature, shorter recovery time, and reduced postoperative pain
An anti-reflux procedure, such as a partial fundoplication (e.g., Dor or Toupet), is typically performed concurrently to prevent gastroesophageal reflux (GERD), which is a common complication post-myotomy
Indications for surgery include failure of or intolerance to non-surgical treatments, or as a primary treatment in most pediatric cases
The procedure aims to relieve the obstruction by cutting the hypertrophied LES muscles.
Supportive Care:
Postoperative care includes pain management, monitoring for complications (such as bleeding, infection, or perforation), and gradual reintroduction of oral feeding
Nutritional support may be continued as needed
Long-term follow-up is essential to monitor for symptom recurrence, reflux, and the development of esophageal dilation or complications.
Complications
Early Complications:
Bleeding from the myotomy site
Esophageal or gastric perforation during myotomy or fundoplication
Injury to adjacent organs (e.g., spleen, vagus nerve)
Pneumothorax or atelectasis
Anastomotic leak (rare if no actual anastomosis).
Late Complications:
Gastroesophageal reflux disease (GERD) is the most common late complication, occurring in 10-40% of patients, hence the routine performance of an anti-reflux procedure
Esophageal stricture at the myotomy site
Recurrence of achalasia symptoms if myotomy is incomplete or too short
Esophageal dilation, which may not reverse even after successful myotomy
Increased risk of esophageal squamous cell carcinoma in the long term, though this risk is significantly lower in pediatric-onset achalasia compared to adult-onset.
Prevention Strategies:
Meticulous surgical technique during Heller myotomy, ensuring adequate length of myotomy and preservation of surrounding structures
Careful selection and performance of an appropriate anti-reflux procedure concurrently with myotomy
Postoperative dietary modifications and lifestyle advice to minimize reflux
Regular endoscopic surveillance for premalignant changes in long-standing achalasia cases.
Prognosis
Factors Affecting Prognosis:
Age at diagnosis (earlier diagnosis may lead to better outcomes), severity of esophageal dilation at diagnosis, technical success of the myotomy and anti-reflux procedure, and adherence to postoperative management and follow-up
The presence of pre-existing significant esophageal dilation or stasis can impact long-term outcomes.
Outcomes:
Heller myotomy, especially when performed laparoscopically with an anti-reflux procedure, offers excellent symptom relief and improved quality of life in most pediatric patients
Success rates are generally reported to be high, with significant improvement in dysphagia and regurgitation
However, a small percentage may experience persistent or recurrent symptoms, often related to GERD or incomplete myotomy.
Follow Up:
Lifelong follow-up is recommended
This typically involves regular clinical assessments to monitor for symptom recurrence or progression
Endoscopic evaluations may be performed periodically, especially in patients with long-standing disease or those at risk for dysplasia or malignancy
Monitoring for GERD and its sequelae is crucial.
Key Points
Exam Focus:
Heller myotomy is the surgical gold standard for pediatric achalasia, aiming to disrupt the hypertensive, non-relaxing LES
Laparoscopic approach with concurrent anti-reflux procedure is standard
Manometry is diagnostic
Differential diagnosis includes eosinophilic esophagitis and diffuse esophageal spasm
GERD is the most common complication.
Clinical Pearls:
Always consider achalasia in a child with progressive dysphagia to solids and liquids, and regurgitation
Barium swallow is a good initial imaging study, but manometry confirms the diagnosis
A concomitant anti-reflux procedure is vital after myotomy to mitigate significant GERD risk
Differentiate symptoms of achalasia from GERD
Prompt surgical intervention is often preferred over less durable medical or endoscopic treatments in children.
Common Mistakes:
Failure to perform an anti-reflux procedure alongside Heller myotomy, leading to problematic GERD
Inadequate length of myotomy, resulting in persistent obstruction
Misinterpreting barium swallow findings and delaying manometry
Overlooking achalasia in infants presenting with poor feeding and failure to thrive
Not considering secondary causes of achalasia in the rare instances.